Genomics England
GMS Panels
Panels
Genes and Entities

SAMD9L

sterile alpha motif domain containing 9 like
OMIM: 611170
PanelMode of inheritanceDetails
5 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
159550 Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome, 159550
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: miscellaneous, Ataxia Pancytopenia Syndrome, MDS, AML
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia-pancytopenia syndrome, 159550
Green
in Inherited predisposition to acute myeloid leukaemia (AML)
R-numbers: R347
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction, MDS, neurological features, Bone marrow failure, Combined immunodeficiencies with associated or syndromic features